Results 61 to 70 of about 2,740 (178)

The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran

Egyptian Journal of Medical Human Genetics
Background Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted.
Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi, Ariane Sadr-Nabavi   +8 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A Situational Overview of Prenatal Screening Services in Bhutan

Public Health Challenges
Prenatal genetic testing is to determine the possibility of the fetus having a genetic aberration or birth defect. Prenatal screening consists of serum analytes screening with or without nuchal translucency (NT) scanning or with cell‐free DNA (CfDNA ...
Yeshey Dorjey, Tashi Gyeltshen, Thinley Dorji, Don Eliseo Lucero‐Prisno III, Mimi Lhamu Mynak, Sonam Gyamtsho, Tashi Tshomo, Phurb Dorji   +7 more
doaj   +1 more source

Interdisciplinary management of a viable term abdominal ectopic pregnancy

Pregnancy, Volume 2, Issue 4, July 2026.
Abstract Introduction Abdominal ectopic pregnancies are rare and associated with increased maternal morbidity and mortality. As the majority are diagnosed early in gestation, there are few reports of management of advanced abdominal ectopic pregnancies. Case A 41‐year‐old gravida 2 para 1 presented with fatigue and a known left ovarian cyst.
Sarena Hayer, Natasha Q. McGlaun, Katerina A. Furman, Michael R. Manuel, Gouri B. Sadananda, Daniel Manzoor, Swati Bhardwaj, Tanu Patel, Sara Dayanim, John A. Ozimek   +9 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Statement: Evaluation and management of cell‐free DNA screening for fetal red cell antigen genotype in alloimmunized and non‐alloimmunized pregnancies

Pregnancy, Volume 2, Issue 4, July 2026.
Abstract A substantial portion of RhD‐negative pregnant patients carry an RhD‐negative fetus and are not at risk of RhD alloimmunization. Knowing the fetal RhD genotype allows such patients to avoid unnecessary monitoring or treatment. The use of cell‐free DNA (cfDNA) to detect the fetal RhD genotype from maternal blood has been proposed to identify ...
Society for Maternal‐Fetal Medicine (SMFM), Britton D. Rink, Jeffrey A. Kuller, Teresa N. Sparks, Malavika Prabhu, Anne H. Mardy, Lorraine Dugoff, Joseph R. Biggio, SMFM Publications Committee   +8 more
wiley   +1 more source

Placental biomarkers of phthalate effects on mRNA transcription: application in epidemiologic research

Environmental Health, 2009
Background CYP19 and PPARγ are two genes expressed in the placental trophoblast that are important to placental function and are disrupted by phthalate exposure in other cell types.
Nelson Heather, Thaker Harshwardhan M, Whyatt Robin M, Williams Paige L, Hauser Russ, Adibi Jennifer J, Herrick Robert, Bhat Hari K   +7 more
doaj   +1 more source

Risk of Placental Pathology Across Ultrasound‐Defined Phenotypes of Impaired Fetal Growth in Dichorionic Twins: A Retrospective Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 8, Page 1616-1628, July 2026.
ABSTRACT Objective To determine the risk of placental dysfunction associated with different ultrasound‐based phenotypes of impaired fetal growth in dichorionic twin pregnancies. Design Retrospective cohort study. Setting Single tertiary centre. Population Patients with dichorionic twin pregnancies delivered at ≥ 320/7 (2011–2023) (N = 753).
Ala Essalah, John Kingdom, Liran Hiersch, Jon Barrett, Megan Watson, Nir Melamed   +5 more
wiley   +1 more source

Maternal Parvovirus B19 Infection Causing First-Trimester Increased Nuchal Translucency and Fetal Hydrops

Case Reports in Obstetrics and Gynecology, 2019
This is a case report of a 31-year-old primigravida who was diagnosed with an asymptomatic acute parvovirus B19 infection in the second trimester of pregnancy and its suspected association with an increased nuchal translucency (NT) measurement ...
Olivia Grubman, Farrah Naz Hussain, Zoe Nelson, Lois Brustman   +3 more
doaj   +1 more source

A review of trisomy X (47,XXX)

Orphanet Journal of Rare Diseases, 2010
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
Sutherland Ashley, Howell Susan, Tartaglia Nicole R, Wilson Rebecca, Wilson Lennie   +4 more
doaj   +1 more source

Os macrófagos na placenta durante o trabalho de parto The macrophages in the placenta during labor

Revista Brasileira de Ginecologia e Obstetrícia, 2009
OBJETIVO: verificar a quantidade de células CD68+ no estroma das vilosidades coriônicas na placenta de gestações submetidas ou não ao trabalho de parto. MÉTODOS: estudo transversal, com gestantes saudáveis a termo, das quais 31 placentas foram examinadas
Júlio Augusto Gurgel Alves, Lilia Maria Carneiro Câmara, Fabrício da Silva Costa, Rebeca Silveira Rocha, Maria Neile Torres de Araújo   +4 more
doaj   +1 more source